Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Smc6'

552480

Institutional Source

Beutler Lab

Gene Symbol

Smc6

Ensembl Gene

ENSMUSG00000020608

Gene Name

structural maintenance of chromosomes 6

Synonyms

2810489L22Rik, 3830418C19Rik, Smc6l1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11265886-11319785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11301631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 887 (E887G)

Ref Sequence

ENSEMBL: ENSMUSP00000020931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000218022]

AlphaFold

Q924W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020931
AA Change: E887G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: E887G

Domain	Start	End	E-Value	Type
Pfam:SMC_N	53	1077	4.7e-17	PFAM
Pfam:AAA_15	54	438	3.1e-9	PFAM
Pfam:AAA_23	56	398	5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217930

Predicted Effect

probably benign
Transcript: ENSMUST00000217991

Predicted Effect

probably benign
Transcript: ENSMUST00000218022

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,481	T1871A	possibly damaging	Het
Adgb	T	C	10: 10,472,241	D25G	probably benign	Het
Ak9	T	C	10: 41,424,717	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,563,379	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,419,550	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747	R93*	probably null	Het
AW822073	T	C	10: 58,223,657	Q425R	unknown	Het
Catsper3	A	G	13: 55,798,849	I120V	probably benign	Het
Cavin2	A	G	1: 51,289,420	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Defb4	T	A	8: 19,201,204	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376	D15G		Het
Gm4763	C	T	7: 24,725,999		probably null	Het
Gm4924	G	A	10: 82,378,699	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549	R50*	probably null	Het
Map10	A	G	8: 125,671,853	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895	C573S	probably benign	Het
Sp140	A	T	1: 85,620,125	D191V	possibly damaging	Het
Srf	C	T	17: 46,555,446	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634		probably benign	Het
Tnfrsf1a	A	T	6: 125,361,536	T337S	probably benign	Het
Tns1	A	T	1: 73,995,304	I144N		Het
Trim11	A	G	11: 58,978,277	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325	Y177H	probably benign	Het

Other mutations in Smc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smc6	APN	12	11299263	missense	possibly damaging	0.48
IGL00562:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL00563:Smc6	APN	12	11301531	missense	probably benign	0.02
IGL01420:Smc6	APN	12	11291658	missense	probably benign	0.27
IGL02299:Smc6	APN	12	11290751	missense	probably benign	0.00
R0207:Smc6	UTSW	12	11283178	unclassified	probably benign
R0365:Smc6	UTSW	12	11283174	critical splice donor site	probably null
R0669:Smc6	UTSW	12	11289164	missense	probably benign	0.41
R0732:Smc6	UTSW	12	11290817	missense	probably damaging	0.96
R1398:Smc6	UTSW	12	11271879	splice site	probably benign
R1509:Smc6	UTSW	12	11279733	missense	possibly damaging	0.55
R1739:Smc6	UTSW	12	11317853	missense	probably benign	0.05
R1775:Smc6	UTSW	12	11309269	missense	probably benign	0.00
R1815:Smc6	UTSW	12	11294601	critical splice donor site	probably null
R1937:Smc6	UTSW	12	11299398	missense	probably benign	0.06
R2090:Smc6	UTSW	12	11289986	missense	probably benign	0.08
R2885:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2886:Smc6	UTSW	12	11276293	missense	probably damaging	0.99
R2991:Smc6	UTSW	12	11289981	missense	probably damaging	0.96
R3825:Smc6	UTSW	12	11301516	splice site	probably benign
R3967:Smc6	UTSW	12	11298326	missense	probably benign	0.13
R3975:Smc6	UTSW	12	11274074	missense	probably damaging	0.99
R4660:Smc6	UTSW	12	11274007	missense	probably damaging	1.00
R5372:Smc6	UTSW	12	11282430	missense	probably damaging	1.00
R5412:Smc6	UTSW	12	11285399	missense	possibly damaging	0.88
R5523:Smc6	UTSW	12	11291539	missense	probably benign	0.31
R5643:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5644:Smc6	UTSW	12	11289994	missense	probably benign	0.18
R5782:Smc6	UTSW	12	11290834	missense	probably damaging	1.00
R6027:Smc6	UTSW	12	11306178	missense	probably benign	0.04
R6083:Smc6	UTSW	12	11276353	missense	possibly damaging	0.95
R6344:Smc6	UTSW	12	11297106	intron	probably benign
R6374:Smc6	UTSW	12	11305873	splice site	probably null
R6430:Smc6	UTSW	12	11309234	missense	probably benign	0.00
R6539:Smc6	UTSW	12	11297010	splice site	probably null
R6767:Smc6	UTSW	12	11271820	missense	possibly damaging	0.93
R7042:Smc6	UTSW	12	11309300	missense	probably damaging	1.00
R7477:Smc6	UTSW	12	11271807	missense	probably benign
R7698:Smc6	UTSW	12	11283140	missense	possibly damaging	0.92
R7832:Smc6	UTSW	12	11317843	missense	probably benign	0.28
R7863:Smc6	UTSW	12	11289129	missense	probably benign	0.00
R8192:Smc6	UTSW	12	11299335	missense	probably benign	0.01
R8229:Smc6	UTSW	12	11291672	missense	probably benign	0.25
R8289:Smc6	UTSW	12	11274051	missense	probably benign	0.41
R9233:Smc6	UTSW	12	11309290	missense	probably benign	0.15
R9596:Smc6	UTSW	12	11295044	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAAGTTATTAGTCCTGTGCATAGG -3'
(R):5'- TTTGATCACCCGTGAAGCTG -3'

Sequencing Primer
(F):5'- GTGCTAACAACTGGCTGTAACTGC -3'
(R):5'- CACCCGTGAAGCTGAATATTTTTC -3'

Posted On

2019-05-15